A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2080072



Internal ID17513868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16161098..16171399hg38UCSC Ensembl
Innerchr17:16064412..16074713hg19UCSC Ensembl
Innerchr17:16005137..16015438hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3810302
hg1910302
hg1810302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962265
Supporting Variants
SamplesHGDP01284
Known GenesNCOR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2080072
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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